Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis
Scharre, Svenja, Mengler, Katharina, Schnabel, Elena, Hübschmann, Oya Kuseyri, Tuncel, Ali Tunç, Hoffmann G.F, Georg Friedrich, Garbade, Sven F., Mütze, Ulrike, Kölker, Stefan
Published in Genetics in medicine (17.10.2024)
Published in Genetics in medicine (17.10.2024)
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Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications
Schulze, Andreas, Lindner, Martin, Kohlmüller, Dirk, Olgemöller, Katharina, Mayatepek, Ertan, Hoffmann, Georg F
Published in Pediatrics (Evanston) (01.06.2003)
Published in Pediatrics (Evanston) (01.06.2003)
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Journal Article
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
Mills, Philippa B., Surtees, Robert A.H., Champion, Michael P., Beesley, Clare E., Dalton, Neil, Scambler, Peter J., Heales, Simon J.R., Briddon, Anthony, Scheimberg, Irene, Hoffmann, Georg F., Zschocke, Johannes, Clayton, Peter T.
Published in Human molecular genetics (15.04.2005)
Published in Human molecular genetics (15.04.2005)
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Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sauer, Sven W, Okun, Jürgen G, Fricker, Gert, Mahringer, Anne, Müller, Ines, Crnic, Linda R, Mühlhausen, Chris, Hoffmann, Georg F, Hörster, Friederike, Goodman, Stephen I, Harding, Cary O, Koeller, David M, Kölker, Stefan
Published in Journal of neurochemistry (01.05.2006)
Published in Journal of neurochemistry (01.05.2006)
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Exploring the validity and reliability of a questionnaire for evaluating virtual patient design with a special emphasis on fostering clinical reasoning
Huwendiek, Sören, De Leng, Bas A., Kononowicz, Andrzej A., Kunzmann, Romy, Muijtjens, Arno M.M., Van Der Vleuten, Cees P.M., Hoffmann, Georg Friedrich, Tönshoff, Burkhard, Dolmans, Diana H.J.M.
Published in Medical teacher (03.08.2015)
Published in Medical teacher (03.08.2015)
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Differential diagnosis in patients with suspected bile acid synthesis defects
Haas, Dorothea, Gan-Schreier, Hongying, Langhans, Claus-Dieter, Rohrer, Tilman, Engelmann, Guido, Heverin, Maura, Russell, David W, Clayton, Peter T, Hoffmann, Georg F, Okun, Jürgen G
Published in World journal of gastroenterology : WJG (14.03.2012)
Published in World journal of gastroenterology : WJG (14.03.2012)
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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
van Kuilenburg, André B.P., Dobritzsch, Doreen, Meijer, Judith, Meinsma, Rutger, Benoist, Jean-François, Assmann, Birgit, Schubert, Susanne, Hoffmann, Georg F., Duran, Marinus, de Vries, Maaike C., Kurlemann, Gerd, Eyskens, François J.M., Greed, Lawrence, Sass, Jörn Oliver, Schwab, K. Otfried, Sewell, Adrian C., Walter, John, Hahn, Andreas, Zoetekouw, Lida, Ribes, Antonia, Lind, Suzanne, Hennekam, Raoul C.M.
Published in Biochimica et biophysica acta (01.07.2010)
Published in Biochimica et biophysica acta (01.07.2010)
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Neurometabolic changes in patients with subacute sclerosing panencephalitis
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Conference Proceeding
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Kölker, Stefan, Koeller, David M., Okun, Jürgen G., Hoffmann, Georg F.
Published in Annals of neurology (01.01.2004)
Published in Annals of neurology (01.01.2004)
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Journal Article
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
Külkens, S, Harting, I, Sauer, S, Zschocke, J, Hoffmann, G F, Gruber, S, Bodamer, O A, Kölker, S
Published in Neurology (28.06.2005)
Published in Neurology (28.06.2005)
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Journal Article
Neonatal screening for glutaryl‐CoA dehydrogenase deficiency
Lindner, M., KÖlker, S., Schulze, A., Christensen, E., Greenberg, C. R., Hoffmann, G. F.
Published in Journal of inherited metabolic disease (01.11.2004)
Published in Journal of inherited metabolic disease (01.11.2004)
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Journal Article
Combining IRT/PAP+SN with DNA analysis for the best CF newborn screening strategy for Germany
Sommerburg, O, Stahl, M, Muckenthaler, M, Kohlmüller, D, Happich, M, Kulozik, AE, Hoffmann, GF, Mall, MA
Published in Pneumologie (14.07.2015)
Published in Pneumologie (14.07.2015)
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Conference Proceeding
Neurodegeneration in Methylmalonic Aciduria Involves Inhibition of Complex II and the Tricarboxylic Acid Cycle, and Synergistically Acting Excitotoxicity
Okun, Jürgen G., Hörster, Friederike, Farkas, Lilla M., Feyh, Patrik, Hinz, Angela, Sauer, Sven, Hoffmann, Georg F., Unsicker, Klaus, Mayatepek, Ertan, Kölker, Stefan
Published in The Journal of biological chemistry (26.04.2002)
Published in The Journal of biological chemistry (26.04.2002)
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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
Wolf, N I, Harting, I, Boltshauser, E, Wiegand, G, Koch, M J, Schmitt-Mechelke, T, Martin, E, Zschocke, J, Uhlenberg, B, Hoffmann, G F, Weber, L, Ebinger, F, Rating, D
Published in Neurology (26.04.2005)
Published in Neurology (26.04.2005)
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Journal Article
Phenylalanine reduces synaptic density in mixed cortical cultures from mice
HÖRSTER, Friederike, SCHWAB, Marina A, SAUER, Sven W, PIETZ, Joachim, HOFFMANN, Georg F, OKUN, Jürgen G, KÖLKER, Stefan, KINS, Stefan
Published in Pediatric research (01.04.2006)
Published in Pediatric research (01.04.2006)
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Lack of creatine in muscle and brain in an adult with GAMT deficiency
Schulze, Andreas, Bachert, Peter, Schlemmer, Heinz, Harting, Inga, Polster, Tilman, Salomons, Gajja S., Verhoeven, Nanda M., Jakobs, Cornelis, Fowler, Brian, Hoffmann, Georg F., Mayatepek, Ertan
Published in Annals of neurology (01.02.2003)
Published in Annals of neurology (01.02.2003)
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